BMJ Case ReportsPub Date : 2025-05-26DOI: 10.1136/bcr-2024-263539
Abubakr Ziaullah, Aamir Hasan, Shaun Cardozo
{"title":"Biventricular thrombi with a rare left ventricular septal thrombus in a patient with peripartum cardiomyopathy.","authors":"Abubakr Ziaullah, Aamir Hasan, Shaun Cardozo","doi":"10.1136/bcr-2024-263539","DOIUrl":"https://doi.org/10.1136/bcr-2024-263539","url":null,"abstract":"<p><p>Peripartum cardiomyopathy (PPCM) is a potential complication of pregnancy, described as left ventricular (LV) dysfunction (characterised as LV ejection fraction < 45%) occurring towards the end of pregnancy or in the months following delivery. Decreased LV contractility can lead to various complications, including the formation of an LV thrombus. We report the case involving a woman in her 20s with a history of PPCM, who developed biventricular thrombi with a rare mid-septal LV thrombus months after diagnosis. Despite initial treatment with heparin and warfarin, the thrombi persisted. A switch to rivaroxaban led to the resolution of both thrombi. This case underscores the importance of early anticoagulation in patients with PPCM and the potential role of rivaroxaban as a treatment option in managing uncommon thrombi in these patients.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156732","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Clear cell borderline tumour of the ovary: a rare entity.","authors":"Kaarthiga Ramalingam Gopinath, Chitra Thyagaraju, Bhawana Ashok Badhe","doi":"10.1136/bcr-2025-266082","DOIUrl":"https://doi.org/10.1136/bcr-2025-266082","url":null,"abstract":"<p><p>Borderline clear cell tumours of the ovary are exceedingly rare, with limited cases documented in literature. We present a case of a woman with primary infertility who presented with abnormal uterine bleeding and a history of bilateral endometriotic cysts. Abdominal examination revealed a mass of 17×12 cm. CT imaging showed a heterogeneous solid-cystic mass measuring 16.6×10.8 cm in the right adnexa with elevated cancer antigen 125 (CA-125) levels (761.9 IU/mL). Staging laparotomy was performed due to high suspicion of malignancy. Intraoperatively, a right ovarian mass of 18×14 cm size, with intact capsule, and a 3×3 cm left ovarian endometriotic cyst were found. Microscopically, the mass showed a multiloculated cyst wall lined by cuboidal epithelium, without significant nuclear atypia or stromal invasion, and was positive for Napsin A. The overall features were suggestive of clear cell borderline tumour. Postoperative CA-125 level was normalised and the patient was placed under regular follow-up.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2025-05-26DOI: 10.1136/bcr-2023-255721
Ujjwal Prakash Jha, Subina Narang, Varsha Jindal
{"title":"Corneoscleral plaque brachytherapy using 'BARC I-125 Ocu-Prosta seeds' in the management of iridociliary melanoma.","authors":"Ujjwal Prakash Jha, Subina Narang, Varsha Jindal","doi":"10.1136/bcr-2023-255721","DOIUrl":"https://doi.org/10.1136/bcr-2023-255721","url":null,"abstract":"<p><p>We present the case of a woman in her late 40s who presented with an iris lesion extending to the ciliary body and mature white cataract with a visual acuity of perception of light in her right eye. The tumour was managed with Bhabha Atomic Research Centre Iodine-125 (BARC I-125) Ocu-Prosta seeds plaque therapy with the amniotic membrane buffer technique. No corneal complications or secondary glaucoma were seen over a 6-month follow-up, and a reduction in tumour size was observed on MRI. Ten months post corneoscleral plaque brachytherapy (PB), the patient underwent phacoemulsification in the same eye and achieved a best corrected visual acuity of 20/40. This case highlights the use of cost-effective indigenous I-125 Ocu-Prosta seeds with amniotic membrane in the successful management of iridociliary melanoma, which has not been reported so far.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156772","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Congenital microphthalmos with orbital dermoid cyst extending to frontal sinus.","authors":"Abid Majeed Rather, Bijnya Birajita Panda, Alok Kumar Sethi, Ashok Kumar Jena","doi":"10.1136/bcr-2025-265641","DOIUrl":"https://doi.org/10.1136/bcr-2025-265641","url":null,"abstract":"<p><p>A child presented with a chronic mucus discharging fistula from a mass over the right eyelid. There was a diagnostic dilemma about the mucus discharge from the mass which was probably thought to be secreted from the frontal sinus. The lesion caused a noticeable swelling in the eyelid with potential implications for surrounding structures. During surgical exploration, a large dermoid cyst was found occupying the entire orbit and extending into the frontal sinus, which was then thoroughly curetted and packed with fat to prevent recurrence and maintain structural integrity. On further exploration, a very rudimentary globe with a small optic nerve stump was discovered during the surgery, which was enucleated and socket reconstruction was performed with dermis-fat graft. The patient had a smooth postoperative recovery with good cosmetic results and no signs of recurrence or complications.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156760","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2025-05-26DOI: 10.1136/bcr-2025-265023
Fozia Khan, Mohamed A Maher, Kumar Kumarendran, Sathya Parthasarathy
{"title":"Live birth in a twin pregnancy with a complete hydatidiform mole and a coexisting normal fetus.","authors":"Fozia Khan, Mohamed A Maher, Kumar Kumarendran, Sathya Parthasarathy","doi":"10.1136/bcr-2025-265023","DOIUrl":"https://doi.org/10.1136/bcr-2025-265023","url":null,"abstract":"<p><p>Co-presentation of complete mole with live pregnancy is very rare, few cases with live birth were reported. The diagnosis requires a high index of suspicion, which is important to set the management plan antenatal, intrapartum, postnatal and neonatal.Our patient conceived during follow-up for previous partial molar pregnancy. Early pregnancy scan showed a gestational sac with cystic spaces. Ultrasound scans by fetal medicine specialists revealed a normally developing fetus with partly multicystic placenta. She was delivered by caesarean section at 31 weeks due to abdominal pain and increasing size of the theca lutein cysts. Placental histology and cytogenetics confirmed the diagnosis. Further course of care was uneventful.Incidence of the above-mentioned condition is 1 in 20 000 to 100 000. This is a high-risk pregnancy with multiple maternal, fetal and neonatal complications. The suggested management plan involves a multidisciplinary team and individualised care with close maternal and fetal monitoring.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2025-05-26DOI: 10.1136/bcr-2024-263401
Kshitij Bhardwaj, Shiraz Syed, Syed Mushtaq Ahmad
{"title":"Rare finding of right radius tuberculosis.","authors":"Kshitij Bhardwaj, Shiraz Syed, Syed Mushtaq Ahmad","doi":"10.1136/bcr-2024-263401","DOIUrl":"https://doi.org/10.1136/bcr-2024-263401","url":null,"abstract":"<p><p>We report a case of a patient in his early 20s who attended a rural charitable clinic with persistent right wrist pain for almost 2 months. Due to the absence of any systemic symptoms, the patient relied on self-medication with analgesics and did not seek medical evaluation during this period. Subsequent imaging of the right wrist revealed a well-defined lytic lesion in the styloid process of the radius. Histopathological analysis confirmed granulomatous inflammation, and further microbiological culture confirmed <i>Mycobacterium tuberculosis</i> The patient was started on antitubercular treatment which resulted in significant clinical improvement. Osteoarticular tuberculosis (TB) of the radius is rare, and this case highlights the importance of maintaining a high index of suspicion for rare sites of osteoarticular TB in endemic regions, even in the absence of classical constitutional symptoms.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156888","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2025-05-26DOI: 10.1136/bcr-2023-257172
Kelly Ng, Michelle Rougerie, Daniel Lorber Rolnik
{"title":"Antenatal presentations of congenital sideroblastic anaemia as severe fetal anaemia.","authors":"Kelly Ng, Michelle Rougerie, Daniel Lorber Rolnik","doi":"10.1136/bcr-2023-257172","DOIUrl":"https://doi.org/10.1136/bcr-2023-257172","url":null,"abstract":"<p><p>Severe fetal anaemia of unknown aetiology can present a diagnostic challenge. Rare causes of fetal anaemia include congenital sideroblastic anaemia (CSA), a rare group of disorders that typically manifest during infancy and early childhood. This case report describes three pregnancies complicated by CSA presenting antenatally in the same woman. The index case was a twin pregnancy in which both neonates were born severely anaemic with one surviving twin. The subsequent cases of severe fetal anaemia were detected during pregnancy and successfully managed with intrauterine blood transfusions (IUTs). The three surviving children required several neonatal transfusions and were later diagnosed with CSA. To our knowledge, this is the first case report describing CSA presenting in the antenatal period with surviving patients and thereby highlights the importance of considering fetal anaemia early in pregnancy and the potential for early intervention with IUTs to improve survival outcomes in this group of patients.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156721","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2025-05-26DOI: 10.1136/bcr-2025-264874
Binh Thanh Le, Tien Quoc Nguyen, Cam Thao Nguyen, Anh Xuan Nguyen, Cuong Minh Duong
{"title":"Delayed diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a Vietnamese adolescent male presenting with hypotension.","authors":"Binh Thanh Le, Tien Quoc Nguyen, Cam Thao Nguyen, Anh Xuan Nguyen, Cuong Minh Duong","doi":"10.1136/bcr-2025-264874","DOIUrl":"https://doi.org/10.1136/bcr-2025-264874","url":null,"abstract":"<p><p>Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), known as autoimmune polyglandular syndrome type 1, has largely been described in patients of European origin. APECED is a rare condition caused by mutations in the autoimmune regulator (<i>AIRE</i>) gene. We report the first case of APECED in a Vietnamese boy who presented with hypotension due to adrenal crisis leading to the accidental diagnosis of APECED. His clinical manifestations were typical, with mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. DNA sequencing showed homozygosity for the c.769C>T variant, which is one of the most common variants of the <i>AIRE</i> gene. His symptoms improved with adrenal hormone replacement therapy, calcitriol and calcium supplements for hypoparathyroidism and oral fluconazole for onychomycosis. Given that APECED is easily misdiagnosed due to its rarity in Asian population and other non-Europeans, leading to overlooked life-threatening complications, paediatricians should be aware of APECED in patients from these populations presenting with unexplained hypotension associated with mucocutaneous candidiasis or any endocrinopathy manifestation.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2025-05-26DOI: 10.1136/bcr-2025-265562
Jignesh Patel, Sophie Schuelke, Sarah Lutes
{"title":"<i>Mycoplasma pneumoniae</i> infection complicated by autoimmune haemolytic anaemia (AIHA) and focal seizures in a paediatric patient.","authors":"Jignesh Patel, Sophie Schuelke, Sarah Lutes","doi":"10.1136/bcr-2025-265562","DOIUrl":"https://doi.org/10.1136/bcr-2025-265562","url":null,"abstract":"<p><p><i>Mycoplasma pneumoniae</i> commonly causes atypical pneumonia with mild symptoms such as cough, fever and general malaise. However, it can be associated with more severe extrapulmonary manifestations affecting the cardiovascular, neurological and haematological systems. We report the case of a female toddler with mycoplasma pneumonia, initially presenting with typical symptoms such as cough and fever. The course of infection was later complicated by autoimmune haemolytic anaemia (AIHA) and focal seizures. The patient responded to treatment with intravenous azithromycin and ceftriaxone. This case highlights the importance of promptly recognising and treating more severe and less common manifestations of <i>M. pneumoniae</i> infection.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2025-05-26DOI: 10.1136/bcr-2024-264410
Nikolay Dementyev, Davide E A Moro, Martial Coutaz
{"title":"Hyperosmolar non-ketotic hyperglycaemic hemichorea as a presentation of diabetic striatopathy: importance of early recognition.","authors":"Nikolay Dementyev, Davide E A Moro, Martial Coutaz","doi":"10.1136/bcr-2024-264410","DOIUrl":"https://doi.org/10.1136/bcr-2024-264410","url":null,"abstract":"<p><p>Diabetic striatopathy (DS) is a rare neurological complication of hyperglycaemia. It is typically diagnosed when high blood glucose levels are accompanied by abnormal movements and/or characteristic findings on neuroimaging. We describe a rare case of DS with progressive hemichorea, distinctive MRI findings and non-ketotic hyperglycaemia. After 2 weeks of optimal glycaemic control combined with antichorea medications, as well as additional treatments for DS-associated comorbidities, the patient's condition improved significantly. This case underscores the importance of measuring blood glucose in patients presenting with involuntary movements.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 5","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144156805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}